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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26; 44(4):440-4, S1-2.
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PubMed
subject areas
Abnormalities, Multiple
Actins
Adolescent
Adult
Amino Acid Sequence
Base Sequence
Brain
Child
Coloboma
Developmental Disabilities
DNA Copy Number Variations
Female
Humans
Intellectual Disability
Male
Molecular Sequence Data
Mutation, Missense
Nervous System Malformations
PAX9 Transcription Factor
Sequence Alignment
Sequence Analysis, DNA
Sequence Deletion
Syndrome
authors with profiles
William B. Dobyns